Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520114G>T , CM000674.2:g.52520114G>T | GRCh38 |
| NC_000012.11:g.52913898G>T , CM000674.1:g.52913898G>T | GRCh37 |
| NC_000012.10:g.51200165G>T | NCBI36 |
| NG_008297.1:g.5346C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.183C>A MANE Select | ENSP00000252242.4:p.Gly61= | |
| ENST00000252242.8:c.183C>A | ENSP00000252242.4:p.Gly61= | |
| ENST00000546577.1:c.183C>A | ENSP00000449651.1:p.Gly61= | |
| ENST00000549420.1:c.43+140C>A | ENSP00000447209.1:n.43+140C>A | |
| ENST00000551275.1:c.172+11C>A | ENSP00000448041.1:n.172+11C>A | |
| ENST00000552629.5:n.281C>A | ||
| NM_000424.3:c.183C>A | NP_000415.2:p.Gly61= | |
| NM_000424.4:c.183C>A MANE Select | NP_000415.2:p.Gly61= |